ClinVar Miner

Submissions for variant NM_000337.5(SGCD):c.45T>A (p.Pro15=) (rs727505092)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000156536 SCV000206255 likely benign not specified 2014-05-08 criteria provided, single submitter clinical testing Pro15Pro in exon 3 of SGCD: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
GeneDx RCV000156536 SCV000534039 likely benign not specified 2016-11-21 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000732544 SCV000860512 uncertain significance not provided 2018-03-23 criteria provided, single submitter clinical testing
Invitae RCV001411707 SCV001613772 likely benign Autosomal recessive limb-girdle muscular dystrophy type 2F 2020-01-24 criteria provided, single submitter clinical testing

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